NM_000104.3:c.868dup

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HGVS Expressions

  • NG_008386.2:g.6581dup
  • NM_000104.3:c.868dup
  • NP_000095.2:p.Arg290ProfsTer37
  • NC_000002.12:g.38074526dup

Associated Genes

Cytochrome P450, Subfamily I, Polypeptide 1
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Duplication

dbSNP

587778875

Clinvar

68468

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
231300.19Saudi Arabia2PathogenicGlaucoma 3, Primary Congenital, AKhan et al. 2011
231300.21Saudi Arabia1PathogenicGlaucoma 3, Primary Congenital, AKhan et al. 2011
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Contributors

  • Pratibha Nair: 28.04.2019

Edit History

  • Pratibha Nair: 21.11.2022
  • Rahila Mir: 17.02.2022
  • Pratibha Nair: 29.04.2019
  • Pratibha Nair: 28.04.2019
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.